CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 43 62
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 24 42
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 58
C0262444 Abnormality of the dentition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 13 16
C1184923 Lumbar hyperlordosis disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 7 8
C0428465 Serum lipids high (finding) phenotype Finding 7 7
C1837084 Short metacarpal phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 5 7
C0266295 Congenital hypoplasia of kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of the genitourinary system 5 6
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 5 6
C0021655 Insulin Resistance phenotype Nutritional and Metabolic Diseases Pathologic Function Abnormality of metabolism/homeostasis 4 7
C0085271 Self-Injurious Behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 4 6
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 2 4
C4310689 SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES disease Disease or Syndrome 1 8